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MoGAAAP:一个模块化的Snakemake工作流程,用于自动化基因组组装和注释,并进行质量评估
Dirk-Jan M van Workum1, Kuntal K Dey2, Alexander Kozik2
1Bioinformatics Group, Wageningen University & Research, Droevendaalsesteeg 1, 6708 PB, Wageningen, the Netherlands.
NAR genomics and bioinformatics
|January 26, 2026
概括
这项研究引入了一个用户友好的自动基因组组装和注释管道,为比较基因组学生产高质量的基因组. 该工具提供了全面的质量评估,帮助研究人员完善各种物种的基因组数据.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 计算生物学 计算生物学
背景情况:
- 高通量测序技术需要标准化和自动化的基因组组装和注释方法.
- 产生高质量的基因组对于下游应用,如比较 (泛) 基因组学至关重要.
研究的目的:
- 为自动化,高质量的基因组组装和注释开发一种无关物种的管道.
- 整合各种测序数据类型 (HiFi,ONT,Hi-C) 进行强大的基因组重建.
- 提供全面的质量评估报告,用于手工精细化和体可视化.
主要方法:
- 开发基于Snakemake的管道,整合现有的生物信息工具.
- 输入可容纳HiFi读取,可选支持超长的ONT和Hi-C读取.
- 自动生成的质量评估指标,包括完整性,污染,和 pangenome 概述.
主要成果:
- 一个不依赖物种的管道,MoGAAAP,已成功实施用于基因组组装和注释.
- 该管道产生了广泛的质量评估报告,促进了手动数据的精细化.
- 它可以为相关个体生成一个简洁的泛基因组视图和参考基因组.
结论:
- MoGAAAP 管道为生成高质量的注释基因组提供了标准化和自动化解决方案.
- 其全面的质量控制功能支持精确的基因组组装和注释改进.
- 该管道可以通过GitHub,Zenodo和Bioconda轻松访问,供广泛的研究社区使用.
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